ORPHA:2064
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Synonyms: Faulk-Epstein-Jones syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | Faulk-Epstein-Jones syndrome |
| fr | Syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis | Syndrome de Faulk-Epstein-Jones |
| de | Posteriore Fusion der lumbosakralen Wirbelkörper-Blepharoptose-Syndrom | Faulk-Epstein-Jones-Syndrom |
| es | Síndrome de fusión posterior de las vértebras lumbosacras-blefaroptosis | |
| it | Fusione posteriore delle vertebre lombosacrali - blefaroptosi | Sindrome di Faulk-Epstein-Jones |
| nl | Posterieure fusie van lumbosacrale wervels - blefaroptose-syndroom | Syndroom van Faulk-Epstein-Jones |
| pt | Síndrome de fusão vertebral lombosagrada posterior-blefaroptose | Síndrome Faulk-Epstein-Jones |
| pl | Zrost kręgu lędźwiowego i krzyżowego - opadanie powiek | Zespół Faulka, Epsteina i Jonesa |
| cs | Syndrom zahrnující zadní fúzi lumbosakrálních obratlů a blefaroptózu | Faulkův-Epsteinův-Jonesův syndrom · Faulk-Epstein-Jonesův syndrom |
| uk | Синдром заднього зрощення попереково-крижових хребців - блефароптозу | Синдром Фолка-Епштейна-Джонса |
| zh | 腰骶椎后路融合-睑下垂综合征 | Faulk-Epstein-Jones 综合征 |
| tr | Lumbosakral vertebranın posterior füzyonu-blefaroptoz sendromu | Faulk-Epstein-Jones sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192800 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0008650 | E | validated | |
| MeSH | C536344 | E | validated | |
| UMLS | C4510303 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 5443339[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5443339[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005626 | Posterior fusion of lumbosacral vertebrae | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0001387 | Joint stiffness | |
| HP:0000960 | Sacral dimple | |
| HP:0008368 | Tarsal synostosis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2064
- This record as JSON: /data/d/2064.json